Global Variome shared LOVD

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Phenotype #0000142005 Individual ID 00179514 Associated disease AMD1 Phenotype details see paper; ..., markedly short forearms, short and broad fingers and toes, limited extension elbows, normal motor milestones Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite AMDM Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Height-Weight-OFC - Protein - Owner name Noor-ul-ain Ain Database submission license No license selected Created by Johan den Dunnen Date created 2018-08-24 09:39:31 +02:00 (CEST) Date last edited 2020-07-02 16:25:29 +02:00 (CEST)

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